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Familial adenomatous polyposis ?

Two months ago (at age 28 ), I reported an incident of bloody stool to my physician. While this wasn't the first visual sign of blood in my stool (maybe a handful of prior incidents, none where blood and stool were separate, and none were blood appeared excessive), for a 36-hour period the stool was bright red in color and entirely liquid. Microscopic amounts of blood in the stool were observed afterwards and a colonoscopy was recommended. The doctor that performed the procedure noted in a post-op meeting that several hundred polyps were discovered (interestingly enough, this was omitted from his report).

His report stated the following: Multiple sessile polyps were found in the sigmoid/descending/transverse/ascending colon, at the hepatic flexure, and in the cecum. Polyps were 4-8mm in size and appear to be benign.



Histology report follows below:

A) Colon, cecum/asending/hepatic flexure, biopsy:
- fragments of tubular adenoma(s); negative for high-grade dysplasia
- separate fragments of colonoic mucosa with focal hyperplastic changes

B) colon, cecum/asecnding/hepatic flexure/transverse, biopsy:
- colonic mucosa with lymphoid aggregates and without significant histopathological abnormality

C) colon, splenic flexure/descending/sigmoid, biopsy:
- fragments of tubular adenoma(s); negative for high-grade dysplasia
- separate fragments of colonoic mucosa without significant histopathological abnormality

D) colon, splenic flexure/descending/sigmoid, biopsy:
- colonoic mucosa without significant histopathological abnormality

E) Rectum, biopsy:
- fragments of tubular adenoma(s); negative for high-grade dysplasia

Comments: The large number of adenomatous polyps raises the possibility of hereditary polyposis syndrome.




Additional information: neither my mom or dad (both over 70) have shown similar polyp activity in their colon and they both have had regular colonoscopies for some time now. I have 3 older brothers ranging in age from 31 to 39 and neither have exhibited any symptoms, although all were alerted to have a colonoscopy immediately since the hereditary factor here is alarming. No DNA testing seems to have been performed yet, at least it was not mentioned on the histology report. For the past year, I've noticed a higher frequency of bowel movements that have reached about 8 per day and all very solid. At no time have I ever felt urgency to relieve myself while lacking the ability to hold it in so to speak.

Obviously, I''m left a bit unsettled as to what happens next. The fear of a total colectomy is one that cannot go ignored and one that leads me to asking for additional professional guidance here. I will be meeting with a surgeon in two weeks who I imagine will go over all my options and associated effects. The negative dysplasia test results did some to comfort me, but is there anything further that I should know about?
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replied June 4th, 2010
given your age and the high number of polyps, I would also suspect a polyposis syndrome. The first that comes to mind is familial adenomatous polyposis, which is what I have. It is possible that you have a spontaneous mutation, meaning that you are the first in your family to have the mutation. You should be offered genetic counseling to consider genetic testing. You should also consider going to a large cancer center that specializes in FAP. Depending on your location, there is MD Anderson in Houston, Mayo Clinic in Minnesota, Dana Farber in Boston, Johns Hopkins in Baltimore, just to name a few... I assume that by now you have already met with a surgeon and outlined a plan for removing your colon, but there is more to the disease than just that.
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replied September 19th, 2010
wow this sounds exactly like my life now with afap diagnosis, my parents had no major issues and no polyps but uncle died of colon cancer, said my case was genetic, now a worry for my kids to have full blown fap would you have colectomy to prevent colon cancer, especially if you have been doing this for 12 yrs and been very lucky but how far can luck go? i wander this all the time. my pathology reports are similiar to your except mine are tubular villous kind.im still trying to learn about this and trying to find someone to talk to that has been going through or gone through this too......
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replied December 6th, 2011
FAP
Hello, I found your forum through excessive Internet searching on FAP. My husband was diagnosed June this year after complaining about severe bloating, cramping, constipation & diarrhea. He had a colonoscopy and post op the nurse suggested he wear a pad for bleeding - this sent our alarm bells ringing...
He had a ct scan & MRI the following days - which resulted in an appointment to see a colon specialist. Well what he told us made me collapse! Colon cancer with 3 spots on the liver. He had hundreds of poloyps - with numerous turned to cancer. After a grueling 4 months of chemo the tumors were small enough for a successful liver resection. He is currently/today having a full removal of colon, bowel, rectum, anus & surrounding muscle. He will live with a permanent ileostomy.. He is only 38!!! Is a pro cyclist and very fit. He has 4 young daughters to his previous marriage and we are all worried about the genetic factors involving they may need a bowel resection in their teens. If only my husband knew what was happening to his body...?? We have full hope a full recovery will be made - stage 4 cancer is only a number to
Us!! All the best, Kate.
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replied December 27th, 2011
I'm 39 and found out I have FAP 10 days ago. I found out Friday I don't have cancer yet but other than that I don't know much. I'll see my doctor next week and hope to hear back from John Hopkins tomorrow. I from what I've read online and reading your post Kate I feel very lucky. Except for the fact that I'm getting ready to get married and my girlfriend is very stressed about passing the gene along.

I wish the best for you and your husband Kate.

Jason
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